L-ferritin gene

At 22 years of age, the patient underwent weekly 500 mL phlebotomy treatments and dropped her hemoglobin level from 153 g/L to 84 g/L over one month. She subsequently developed symptomatic cataracts and, given a positive family history of cataracts, the diagnosis of HHCS was made and she underwent surgical treatment. Genomic DNA was extracted […]

Almost 20 different mutations have been described in the IRE of the L-ferritin gene. Heterozygous point mutations in the 5′ region of the L-ferritin gene account for the majority of the mutations with the exception of three deletion mutations (from two-base pair to 28-base pair deletions). We set out to determine whether the family in […]

The role of the IRE is to interact with the cytoplasmic iron-responsive proteins (IRP) to regulate ferritin synthesis in response to cytoplasmic iron pools. When iron pools are adequate, the binding of the IRP to the IRE prevents the recruitment of the small ribosomal subunit to the mRNA, thereby, inhibiting the initiation of translation. The […]

Hereditary hyperferritinemia cataract syndrome (HHCS) is an autosomal dominant disorder that was first described in 1995 independently by Bonneau et al and Girelli et al. It is characterized by early-onset bilateral cataracts and high serum ferritin levels in the absence of iron overload. Iron studies are otherwise normal, with normal to low serum iron and […]